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Phenotypic characterization of patients with Hu-Abs, including the different neurological presentation and the presence or not of an underlying cancer.
Analysis and clinical correlation of the diagnostic techniques for Hu-Abs detection (immunofluorescence, immunodot/Western blot, and CBA) in serum and/or CSF.
Genomic and transcriptomic features of tumors (histological and immune infiltrate characteristics, transcriptomic profile, mutational status).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with Hu Abs | Patients harboring Hu Abs and a neurological syndrome |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Description of clinical, immunological and tumor features of patients harboring Hu Abs | Other | This observationnal study involves clinical data and bio. samples (DNA and tumors block). Demographic and clinical data already in French Reference Center on PNS database will be reviewed. Additional data will be obtained from the referral physicians. The results of diagnostic tests performed to detect Hu-Abs in the patients are already in this database and will be retrospectively analyzed. In addition, the 4 available techniques (immunofluorescence, commercial immunodot, Western blot, and CBA) will be performed from Jan. 2022 to Dec. 2022.Tumor samples from 2 cohorts will be analyzed: (i) tumors of patients with Hu-Abs and PNS, and (ii) tumors of patients without PNS (mostly SCLC). After selecting patients, the study will involve 3 steps: (i) pathological confirmation; (ii) DNA sequencing and CNV analysis (panel of genes involved in anti-Hu autoimmunity; mainly ELAVL1 to 4, encoding for HuA to HuD, the 4 main proteins of the Hu family); and (iii) whole-genome RNA sequencing. |
| Measure | Description | Time Frame |
|---|---|---|
| Modified Rankin Scale (mRs) | Application of modified rankin scale | At 1 year |
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Exclusion Criteria * :
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Patients harboring Hu Abs in serum and/or CSF with or without cancer
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites autoimmunes | Lyon | 69677 | France |
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| ID | Term |
|---|---|
| D008175 | Lung Neoplasms |
| ID | Term |
|---|---|
| D012142 | Respiratory Tract Neoplasms |
| D013899 | Thoracic Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
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Blood, PBMCs, DNA, CSF and tumor collected at the time of diagnosis
|
| D008171 |
| Lung Diseases |
| D012140 | Respiratory Tract Diseases |